Canonical Allele Identifier: CA025124

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142036
• ClinVar RCV Id: RCV000130837 ; RCV000459125 ; RCV000662953 ; RCV000479926 ; RCV000779919 ; RCV004528856
• dbSNP Id: rs587782191
• ExAC: 13:32930636 G / A
• gnomAD v2: 13-32930636-G-A
• gnomAD v3: 13-32356499-G-A
• gnomAD v4: 13-32356499-G-A
• MyVariant Identifiers: chr13:g.32930636G>A (hg19) ; chr13:g.32356499G>A (hg38)
• PubMed: PMID:22034289 ; PMID:25802882

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356499G>A , CM000675.2:g.32356499G>A	GRCh38
NC_000013.10:g.32930636G>A , CM000675.1:g.32930636G>A	GRCh37
NC_000013.9:g.31828636G>A	NCBI36
NG_012772.3:g.46020G>A , LRG_293:g.46020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7507G>A	ENSP00000434898.2:p.Val2503Ile
ENST00000528762.2:c.7507G>A	ENSP00000433168.2:p.Val2503Ile
ENST00000530893.7:c.7138G>A	ENSP00000499438.2:p.Val2380Ile
ENST00000665585.2:c.7507G>A	ENSP00000499570.2:p.Val2503Ile
ENST00000666593.2:c.7507G>A	ENSP00000499256.2:p.Val2503Ile
ENST00000700202.2:c.7507G>A	ENSP00000514856.2:p.Val2503Ile
ENST00000380152.8:c.7507G>A MANE Select	ENSP00000369497.3:p.Val2503Ile
ENST00000544455.6:c.7507G>A	ENSP00000439902.1:p.Val2503Ile
ENST00000614259.2:c.7507G>A	ENSP00000506251.1:p.Val2503Ile
ENST00000665585.1:c.72G>A
ENST00000680887.1:c.7507G>A	ENSP00000505508.1:p.Val2503Ile
ENST00000380152.7:c.7507G>A	ENSP00000369497.3:p.Val2503Ile
ENST00000544455.5:c.7507G>A	ENSP00000439902.1:p.Val2503Ile
ENST00000614259.1:n.7507G>A
NM_000059.3:c.7507G>A , LRG_293t1:c.7507G>A	NP_000050.2:p.Val2503Ile
XM_011535203.1:c.7507G>A	XP_011533505.1:p.Val2503Ile
XM_011535204.1:c.7411G>A	XP_011533506.1:p.Val2471Ile
XM_011535205.1:c.7507G>A	XP_011533507.1:p.Val2503Ile
NM_000059.4:c.7507G>A MANE Select	NP_000050.3:p.Val2503Ile